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Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience.

Authors
  • Ciaccio, Claudia1
  • Saletti, Veronica2
  • D'Arrigo, Stefano3
  • Esposito, Silvia2
  • Alfei, Enrico2
  • Moroni, Isabella4
  • Tonduti, Davide4
  • Chiapparini, Luisa5
  • Pantaleoni, Chiara2
  • Milani, Donatella6
  • 1 Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address: [email protected] , (Italy)
  • 2 Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. , (Italy)
  • 3 Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address: [email protected] , (Italy)
  • 4 Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. , (Italy)
  • 5 Neuroradiology Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. , (Italy)
  • 6 Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. , (Italy)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Dec 01, 2019
Volume
62
Issue
12
Pages
103596–103596
Identifiers
DOI: 10.1016/j.ejmg.2018.12.001
PMID: 30528446
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

To give a full overview of the clinical presentation of PTEN mutations in pediatric patients and to propose a pediatric follow-up protocol. Recruitment of 16 PTEN mutated children (age 6 months-11 years) from two pediatric centers in Milan (Italy) between 2006 and 2017. All the patients underwent clinical and neurologic evaluations, cognitive and behavioral tests, and brain MRI; they are currently following an oncologic follow-up. Extreme macrocephaly is present in all the patients (69% HC above +4 SD). Neuropsychiatric issues have high prevalence, with 56% of patients showing developmental delay and 25% showing autism spectrum disorder. Brain MRI reveals in 75% of the patients at least one of the following: enlarged perivascular spaces, white matter anomalies, and/or downward displacement of the cerebellar tonsils through the foramen magnum, resulting in Chiari I malformation in two patients. Vascular malformations have a prevalence of 19%, with further evidence that complex cardiovascular malformations may be related to PTEN mutations; 31% of patients present hamartomas. None of our patients have so far experienced any oncologic complication. We suggest to screen for PTEN mutations all children presenting macrocephaly and one of the following: neurodevelopmental issues, one of the three major brain MRI anomalies, cutaneous lesions, vascular malformations, family history positive for PTEN related malignancies; or also with macrocephaly alone when exceeding +3 SD. Basing on our cohort results and further recent studies on the condition, we recommend a follow-up protocol that includes annual clinical and dermatological examination, thyroid and abdominal US, and Fecal Occult Blood test plus neurodevelopmental evaluation, heart US (to exclude congenital heart malformations), and brain MRI (to exclude Chiari I malformation) at diagnosis. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

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